Edited by Alastair Sutcliffe .

142 pages . Open access .

1 - Hox Genes and Teratogenic Factors :

Within this state of the art book is a series of exemplary chapters which illustrate the shear complexity of understanding of factors which need to be anticipated when considering, mechanisms, aetiology, investigation, epidemiology, and other considerations in human malformations.

Starting with a Chapter 1 on Hox genes and their importance in teratology, the reader is given an in depth understanding as to how these now well understood basic building block control genes are intimately involved in potential structural malformations. Introducing the reader to the idea that genetic errors from simple deletions, missense and other mutations in Hox can have profound implications for the human being in development. From this the student is encouraged to read further regarding potential other genetic bases for malformations and how subtle these changes can be in the fully formed individual. They are reminded and indeed this is a recurrent theme of this excellent ‘sampler’ book of what a fascinating but highly complicated area of medical science this is.

Moving to another key concept in malformation aetiology…glypicans I immensely enjoyed this erudite chapter (2) written by one of the world’s experts on this topic. The title for the non-expert is quite scary! But enjoy the chapter is it is an excellent example of a way to illustrate a theoretically complex concept ‘signalling’ via our old friends the glypicans and their key role as gatekeepers of the ‘fort.’ The reader is encouraged via this exemplary chapter to consider how complex malformations may develop from simple problems at the embryological level.

3 - Central nervous system vascular malformations :

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This Chapter logically leads the student to a broader understanding of how gene malfunction, signalling and other mechanisms start to broaden into gross anatomical malformations and the human being then becomes diseased being. An understanding of the body needs to focus on individual parts which can be affected. In terms of sheer complexity the order of body systems is in order the central nervous system, then the

heart and cardio vascular system, then the genito urinary system and so forth.

So it unsurprising that due to its sheer complexity the CNS is most prone to malformations. This is both challenging and has profound implications for the patient.

Thus again in this demonstration chapter one is drawn to the malformations as erudite examples of the theme that underpinning complex mechanisms result in gross anatomical problems.

4 - Ultrasound Diagnosis of Congenital Brain Anomalies :

Continuing the CNS theme here is the only truly clinical chapter in this book. Day to day millions of ultrasound investigations are done worldwide. A major area of their usage is in clinical medicine. When the patient is suspected of a congenital malformation which can present at any age, they present to doctor and are then investigated. Advances in ultrasound scanning which have occurred in my 25 years in clinical practice are used in the diagnoses of anomalies of the CNS more and more especially in the neonate. Herein the student in science of teratology is brought as it were to the bedside with a practical example of how the patient is investigated at the bedside.

It is said that most patients who end up in the morgue are found to have incorrect in vivo diagnoses. The historical approach to determining cause of death was via morbid anatomy. In this short chapter this principle is beautifully exemplified with a case incorrectly diagnosed in vivo in which the irreplaceable skill of the gross pathologist, histologist and related are demonstrated reminding the student of the multiple skills and levels of understanding needed to become a malformation expert.

6 - Assisted Reproductive Technology and Congenital Malformations :

If you are looking up in the sky and you see some white lines which are clearly not clouds, you generally would conclude that these are vapour trails from a passenger jet which has passed by recently. Even if you had not seen the airplane.Welcome to the concept of epidemiology. Possible causation of disease are imputed by evidence that an event has happened. Most individual congenital anomalies are fortunately rare. The only way one can potentially become aware of that risk factor for them is through epidemiological studies using decent datasets with minimal missing data. In this chapter a discussion surrounds the up to 4% of human beings now being conceived with extra help via assisted conception and their much talked about increased risk of birth defects. The senior author is the world’s most expert person in this field and the authors’ expertise is reflected in the thorough description of studies of congential anomalies after ART and their potential risks according to types of ART (assisted reproductive technologies). This is a final chapter in this introduction to concepts in congenital anomalies.